Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		0.610 CausalMutation CLINVAR A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204

2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		0.610 CausalMutation CLINVAR Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. 28319323

2017
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		0.610 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		0.610 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 CausalMutation CLINVAR Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. 28319323

2017
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 CausalMutation CLINVAR A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204

2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0002871
Disease: Anemia
Anemia 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0009024
Disease: Clonus
Clonus 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0031256
Disease: Petechiae
Petechiae 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
Lenticulostriate Vasculopathy 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020